PanelApp
  1. Genes and Genomic Entities
  2. ATP5B

ATP5B

ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide
OMIM: 102910, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ATP5B in Mendeliome


Version 1.4566

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dystonia 38, susceptibility to, MIM# 621502
  • Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085

Amber ATP5B in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.16

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Dystonia 38, susceptibility to, MIM# 621502
    • Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085

    Amber ATP5B in Dystonia and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.340

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Dystonia 38, susceptibility to, MIM# 621502